Spinal muscular atrophy (SMA) has a specific cause and is classified into different types, but in order to diagnose the condition, genetic tests have to be performed to confirm it. Find out more about SMA below.
SMA is an inherited disease and unlike many other rare neuromuscular diseases, there is a clear understanding of the specific genetic cause of spinal muscular atrophy.3
Although SMA is characterised by certain signs and symptoms, there are other conditions presenting with similar symptoms but with different genetic causes.
At Biogen, we are committed to supporting those with spinal muscular atrophy and their care team. Our hope for Together in SMA is that, by providing information, we can help you to get the most up-to-date care, and to help guide conversations with your doctors.
WHAT IS SMA?
WHAT CAUSES SMA?
Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disease caused by a mutation in the survival motor neuron 1 (SMN1) gene1
SMA is an inherited disease and unlike many other rare neuromuscular diseases, there is a clear understanding of the specific genetic cause of spinal muscular atrophy.3
Although SMA is characterised by certain signs and symptoms, there are other conditions presenting with similar symptoms but with different genetic causes.
At Biogen, we are committed to supporting those with spinal muscular atrophy and their care team. Our hope for Together in SMA is that, by providing information, we can help you to get the most up-to-date care, and to help guide conversations with your doctors.
“The diagnostic process for SMA has not changed since the original consensus statement paper… unless there are previous familial cases, the diagnostic process is generally prompted by the clinical signs.” 4
References
1. Lunn MR, Wang CH. Spinal muscular atrophy. Lancet. 2008;371(9630):2120-2133.
3. EGL Genetics. Congenital Hypotonia Panel: Spinal Muscular Atrophy Deletions, Prader-Willi/Angelman Syndrome Methylation, Myotonic Dystrophy, and Uniparental Disomy 14. Available at: http://geneticslab.emory.edu/tests/HY. Accessed January 9, 2017.
4. Mercuri E, et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord 2018;28(2):103-115.
